ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)

gnomAD frequency: 0.00016  dbSNP: rs141510219
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247525 SCV001420952 uncertain significance Zellweger spectrum disorders 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 734 of the PEX1 protein (p.Val734Ile). This variant is present in population databases (rs141510219, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 971689). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PEX1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Elsea Laboratory, Baylor College of Medicine RCV001250066 SCV001424271 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 2020-04-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001250066 SCV002814800 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 2022-05-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003393917 SCV004120285 uncertain significance PEX1-related condition 2023-05-10 criteria provided, single submitter clinical testing The PEX1 c.2200G>A variant is predicted to result in the amino acid substitution p.Val734Ile. This variant has been reported in a cohort study of children with obesity (Sabo et al. 2017. PubMed ID: 28508493). This variant is reported in 0.076% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-92132381-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Mayo Clinic Laboratories, Mayo Clinic RCV003481031 SCV004224041 uncertain significance not provided 2023-06-09 criteria provided, single submitter clinical testing BP4
Natera, Inc. RCV001247525 SCV002076872 uncertain significance Zellweger spectrum disorders 2018-05-04 no assertion criteria provided clinical testing

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